Three novel AMH gene mutations in a patient with persistent müllerian duct syndrome and normal AMH serum dosage

Hormone Research

Volumn 70, Issue 2, 2008, Pages 124-128

  Menabò, Soara ^a   Balsamo, Antonio ^a   Nicoletti, Annalisa ^a   Gennari, Monia ^a   Pirazzoli, Piero ^a   Cicognani, Alessandro ^a,b   Baldazzi, Lilia ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b UCI di Scienze Pediatriche Mediche e Chirurgiche   (Italy)

Author keywords

AMH gene; Anti m llerian hormone; Cryptorchidism; Persistent m llerian duct syndrome; Sex development

Indexed keywords

CHORIONIC GONADOTROPIN; GENOMIC DNA; MUELLERIAN INHIBITING FACTOR; ANTI MULLERIAN HORMONE RECEPTOR; ANTI-MULLERIAN HORMONE RECEPTOR; RECEPTOR; TRANSFORMING GROWTH FACTOR BETA RECEPTOR;

AMINO ACID SEQUENCE; ARTICLE; BLOOD LEVEL; CASE REPORT; CRYPTORCHISM; DNA SEQUENCE; GENE MUTATION; HUMAN; INFANT; INGUINAL HERNIA; KARYOTYPE 46,XY; MALE; MUELLERIAN DUCT; PEDIGREE ANALYSIS; PERSISTENT MUELLERIAN DUCT SYNDROME; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RECEPTOR GENE; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SEXUAL DEVELOPMENT; SYNDROME DELINEATION; TESTIS; TESTIS BIOPSY; ULTRASOUND; UTERINE TUBE; UTERUS; VAGINA; BLOOD; GENETICS; MOLECULAR GENETICS; NEWBORN; PATHOLOGY; PEDIGREE; PRESCHOOL CHILD; SEQUENCE ALIGNMENT; SYNDROME;

AMINO ACID SEQUENCE; ANTI-MULLERIAN HORMONE; CHILD, PRESCHOOL; CRYPTORCHIDISM; HERNIA, INGUINAL; HUMANS; INFANT; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MULLERIAN DUCTS; PEDIGREE; RECEPTORS, PEPTIDE; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; SEQUENCE ALIGNMENT; SYNDROME;

EID: 54449099496     PISSN: 03010163     EISSN: None     Source Type: Journal    
DOI: 10.1159/000137664     Document Type: Article

References (15)

1. Josso N, Lamarre I, Picard JY, Berta P, Davies N, Morichon N, Peschanski M, Jeny R: Anti-müllerian hormone in early human development. Early Hum Dev 1993;33:91-99.
2. Josso N, Picard JY, Trah D: The antimüllerian hormone. Rec Prog Horm Res 1976;33:117-167.
3. Rey R: Anti-müllerian hormone in disorders of sex determination and differentiation. Arq Bras Endocrinol Metabol 2005;49:26-36.
4. Belville C, Josso N, Picard JY: Pesistence of müllerian derivatives in males. Am J Med Genet 1999;89:218-223.
5. Cate RL, Mattaliano RJ, Hession C, Tizard R, Farber NM, Cheung A, Ninfa EG, Frey AZ, Gash DJ, Chow EP, et al: Isolation of the bovine and human genes for müllerian inhibiting substance and expression of the human gene in animal cells. Cell 1986;45:685-698.
6. Cohen-Haguenauer O, Picard JY, Mattei MG, Serero S, Nguyen VC, de Tand MF, Guerrier D, Hors-Cayla MC, Josso N, Frezal J: Mapping of the gene for anti-müllerian hormone to the short arm of human chromosome 19. Cytogenet Cell Genet 1987;44:2-6.
7. di Clemente N, Josso N, Gouédard L, Belville C: Components of the anti-müllerian hormone signalling pathway in gonads. Mol Cell Endocrinol 2003;211:9-14.
8. Wilson CA, di Clemente N, Ehrenfels C, Pepinsky RB, Josso N, Vigier B, Cate RL: Müllerian inhibiting substance requires its N-terminal domain for maintenance of biological activity, a novel finding within the transforming growth factor-beta superfamily. Mol Endocrinol 1993;7:247-257.
9. Pepinsky RB, Sinclair LK, Chow EP, Mattaliano RJ, Manganaro TF, Donahoe PK, Cate RL: Proteolytic processing of müllerian inhibiting substance produces a transforming growth factor-beta-like fragment. J Biol Chem 1988;263:18961-18964.
10. di Clemente N, Wilson C, Faure E, Boussin L, Carmillo P, Tizard R, Picard JY, Vigier B, Josso N, Cate R: Cloning, expression, and alternative splicing of the receptor for anti-müllerian hormone. Mol Endocrinol 1994;8:1006-1020.
11. Baarends WM, van Helmond MJ, Post M, van der Schoot PJ, Hoogerbrugge JW, de Winter JP, Uilenbroek JT, Karels B, Wilming LG, Meijers JH, et al: A novel member of the transmembrane serine/threonine kinase receptor family is specifically expressed in the gonads and in mesenchymal cells adjacent to the müllerian duct. Development 1994;120:189-197.
12. Josso N, Belville C, di Clemente N, Picard JY: AMH and AMH receptor defects in persistent müllerian duct syndrome. Hum Reprod Update 2005;11:351-356.
13. Imbeaud S, Belville C, Messica-Zeitoun L, Rey R, di Clemente N, Josso N, Picard JY: A 27 base-pair deletion of the anti-müllerian type II receptor gene is the most common cause of the persistent müllerian duct syndrome. Hum Mol Genet 1996;5:1269-1277.
14. Belville C, Van Vlijmen H, Ehrenfels C, Pepinsky B, Rezaie AR, Picard JY, Josso N, di Clemente N, Cate N: Mutations of the anti-müllerian hormone gene in patients with persistent müllerian duct syndrome: biosynthesis, secretion, and processing of the abnormal proteins and analysis using a three-dimensional model. Mol Endocrinol 2004;18:708-721.
15. Carré-Eusèbe D, Imbeaud S, Harbison M, New MI, Josso N, Picard JY: Variants of the anti-müllerian hormone gene in a compound heterozygote with the persistent müllerian duct syndrome and his family. Hum Genet 1992;90:389-394.